Gene Gene information from NCBI Gene database.
Entrez ID 4983
Gene name Oligophrenin 1
Gene symbol OPHN1
Synonyms (NCBI Gene)
ARHGAP41MRX60MRXSBLOPN1
Chromosome X
Chromosome location Xq12
Summary This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene
SNPs SNP information provided by dbSNP.
26
SNP ID Visualize variation Clinical significance Consequence
rs137854493 G>A Pathogenic Coding sequence variant, stop gained
rs143713841 G>T Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs368803937 G>A Conflicting-interpretations-of-pathogenicity, benign Synonymous variant, coding sequence variant, genic downstream transcript variant
rs369382527 A>C,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
rs587784234 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1097
miRTarBase ID miRNA Experiments Reference
MIRT571129 hsa-miR-3662 HITS-CLIP 24906430
MIRT571128 hsa-miR-8084 HITS-CLIP 24906430
MIRT608591 hsa-miR-7153-3p HITS-CLIP 24906430
MIRT571127 hsa-miR-1272 HITS-CLIP 24906430
MIRT608590 hsa-miR-4789-5p HITS-CLIP 24906430
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS 9582072
GO:0005543 Function Phospholipid binding IDA 18954304
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300127 8148 ENSG00000079482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60890
Protein name Oligophrenin-1
Protein function Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 6 249 Domain
PF00169 PH 266 365 PH domain Domain
PF00620 RhoGAP 388 541 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain.
Sequence
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEEL
KKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDG
KEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
A
AMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
Sequence length 802
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the nervous system Likely pathogenic; Pathogenic rs2147523877 RCV001814515
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OPHN1-related disorder Likely pathogenic rs2519799321 RCV004536698
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure Pathogenic rs2147462360 RCV002275914
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1 Likely pathogenic rs1064793755 RCV005899642
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 1 Androgenetic Alopecia GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 2 Androgenetic Alopecia GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 3 Androgenetic Alopecia GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern GWASDB_DG 22693459
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia GWASCAT_DG 29146897
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aphasia Aphasia Pubtator 35041927 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 24105372 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only